AutismKB 2.0

Annotation Detail for CYP2D6


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CYP2D6 ( CPD6,CYP2D,CYP2D7AP,CYP2D7BP,CYP2D7P2,CYP2D8P2,CYP2DL1,CYPIID6,MGC120389,MGC120390,P450-DB1,P450C2D,P450DB1 )
Gene Full Name: cytochrome P450, family 2, subfamily D, polypeptide 6
Band: 22q13.2
Quick LinksEntrez ID:1565; OMIM: 124030; Uniprot ID:Q5Y7H2_HUMAN; ENSEMBL ID: ENSG00000100197; HGNC ID: 2625
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus9 / 56401215
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult48 / 193912124
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor36 / 96359373
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal61 / 336030718
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone0 / 716550 
bone marrow0 / 488010 
brain2 / 11009891
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine3 / 23447212
kidney0 / 2117770 
larynx0 / 241450 
liver75 / 207743361
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland10 / 15327165
mouth1 / 6705214
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate2 / 18934510
salivary gland0 / 201550 
skin0 / 2105740 
spleen1 / 5395218
stomach0 / 966190 
testis5 / 33044215
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 207498_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts9.25
Adipocyte8.55
AdrenalCortex10.05
Adrenalgland7.4
Amygdala9.35
Appendix9.2
AtrioventricularNode6.95
BDCA4+_DentriticCells7.5
Bonemarrow10.85
BronchialEpithelialCells9.15
CD105+_Endothelial7.8
CD14+_Monocytes8
CD19+_BCells(neg._sel.)8.05
CD33+_Myeloid9.85
CD34+10.85
CD4+_Tcells11.6
CD56+_NKCells7.6
CD71+_EarlyErythroid8.15
CD8+_Tcells8.65
CardiacMyocytes11.1
Caudatenucleus9.4
Cerebellum7.8
CerebellumPeduncles10.15
CiliaryGanglion6.2
CingulateCortex8.85
Colorectaladenocarcinoma9.15
DorsalRootGanglion7.6
FetalThyroid8.55
Fetalbrain10.5
Fetalliver8.25
Fetallung6.8
GlobusPallidus6.5
Heart13.25
Hypothalamus10.15
Kidney8.7
Leukemia_chronicMyelogenousK-5627.85
Leukemia_promyelocytic-HL-608.2
Leukemialymphoblastic(MOLT-4)7.6
Liver3931.15
Lung9.85
Lymphnode8.9
Lymphoma_burkitts(Daudi)14.55
Lymphoma_burkitts(Raji)16.8
MedullaOblongata8.2
OccipitalLobe8.1
OlfactoryBulb6.55
Ovary6.15
Pancreas6.65
PancreaticIslet8.65
ParietalLobe9.45
Pituitary10.8
Placenta8.7
Pons8.4
PrefrontalCortex9.95
Prostate10.4
Salivarygland7.05
SkeletalMuscle11.35
Skin6.6
SmoothMuscle9.1
Spinalcord10.4
SubthalamicNucleus6.8
SuperiorCervicalGanglion10.95
TemporalLobe9.6
Testis7.4
TestisGermCell7.95
TestisIntersitial7.85
TestisLeydigCell12.15
TestisSeminiferousTubule10.7
Thalamus9.1
Thymus6.85
Thyroid11.25
Tongue11.4
Tonsil9.45
Trachea7.3
TrigeminalGanglion10.45
Uterus6.4
UterusCorpus7.9
WholeBlood8.4
Wholebrain7.15
colon8.7
pineal_day11.5
pineal_night10.28
retina10.675
small_intestine9.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P143734
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala2.28 ± 0.91
Basal Forebrain1.66 ± 0.3
Basal Part of Pons1.78 ± 0.41
Cerebellar Cortex2.28 ± 0.62
Cerebellar Nuclei2.09 ± 0.88
Claustrum2.35 ± 0.6
Epithalamus1.98 ± 0.57
Frontal Lobe2.03 ± 0.7
Globus Pallidus1.79 ± 0.7
Hypothalamus2 ± 0.59
Insula1.47 ± 0.6
Limbic Lobe1.98 ± 0.65
Mesencephalon2.07 ± 0.7
Myelencephalon1.94 ± 0.64
Occipital Lobe1.7 ± 0.71
Parietal Lobe1.76 ± 0.7
Pontine Tegmentum1.98 ± 0.66
Striatum1.92 ± 0.7
Subthalamus2.05 ± 0.55
Temporal Lobe2.03 ± 0.62
Thalamus1.78 ± 0.71
White Matter1.86 ± 0.34
Mouse Brain ISH
Peptide Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018